Piebaldism: A rare presentation in Nepalese context

Autor: Aishana Joshi, Sabina Bhattarai, Sandesh Maskey
Rok vydání: 2014
Předmět:
Zdroj: Journal of Kathmandu Medical College. 3:88-91
ISSN: 2091-1793
2091-1785
DOI: 10.3126/jkmc.v3i2.11233
Popis: Piebaldism is a rare autosomal dominant disorder characterised by a congenital white forelock and multiple symmetrical hypopigmented or depigmented macules. We present a case of an 18 year old male with a typical clinical presentation, followed by a concise review of the literature discussing the genetics, clinical features, diagnosis, and management of the condition. This is the first case of Piebaldism to be reported from Nepal with a good cosmetic surgery outcome.DOI: http://dx.doi.org/10.3126/jkmc.v3i2.11233Journal of Kathmandu Medical CollegeVol. 3, No. 2, Issue 8, Apr.-Jun., 2014Page: 88-91
Databáze: OpenAIRE